S29P (p.Ser29Pro) variant of CPT2 (P23786)
S29P (p.Ser29Pro) in CPT2 (P23786) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S29P (p.Ser29Pro) variant details
- p.Ser29Pro
- TOPMed rs1342928062
- gnomAD rs1342928062
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.20
- MetaLR 0.30
- MetaSVM -0.79
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available